| Primary Identifier | MGI:5489914 | Allele Type | Chemically induced (ENU) |
| Gene | Sqle | Inheritance Mode | Other (see notes) |
| Strain of Origin | C57BL/6J | Is Recombinase | false |
| Is Wild Type | false |
| description | Dominant modifier |
| molecularNote | This allele was discovered in a screen for attenuation of the Mecp2tm1.1Bird/Y phenotype among male G1 offspring from crosses of 129S-Mecp2tm1.1Bird/+ female mice by ENU-treated C57BL/6J males (G0). The mutation has been identified as a C-to-T transversion at coding nucleotide 1195 of the cDNA sequence (c.1195C>T) that results in an arginine to translation stop substitution at position 399 of the encoded protein (p.R399*). Western blot analysis confirmed the absence of protein expression of the short and long forms in E8.0 embryos. |
